EP3455760A4 - Procédés de détermination d'un risque pour la santé génomique - Google Patents

Procédés de détermination d'un risque pour la santé génomique Download PDF

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Publication number
EP3455760A4
EP3455760A4 EP17796629.8A EP17796629A EP3455760A4 EP 3455760 A4 EP3455760 A4 EP 3455760A4 EP 17796629 A EP17796629 A EP 17796629A EP 3455760 A4 EP3455760 A4 EP 3455760A4
Authority
EP
European Patent Office
Prior art keywords
determining
health risk
genomic health
genomic
risk
Prior art date
Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
Withdrawn
Application number
EP17796629.8A
Other languages
German (de)
English (en)
Other versions
EP3455760A2 (fr
Inventor
Julia DI IULIO
Amalio Telenti
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Human Longevity Inc
Original Assignee
Human Longevity Inc
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Human Longevity Inc filed Critical Human Longevity Inc
Publication of EP3455760A2 publication Critical patent/EP3455760A2/fr
Publication of EP3455760A4 publication Critical patent/EP3455760A4/fr
Withdrawn legal-status Critical Current

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    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • C12Q1/6886—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10—Sequence alignment; Homology search
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6869—Methods for sequencing
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/118—Prognosis of disease development
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/40—Population genetics; Linkage disequilibrium

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Engineering & Computer Science (AREA)
  • Physics & Mathematics (AREA)
  • Analytical Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Organic Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • General Health & Medical Sciences (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Molecular Biology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Theoretical Computer Science (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Medical Informatics (AREA)
  • Evolutionary Biology (AREA)
  • Pathology (AREA)
  • Immunology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • Oncology (AREA)
  • Hospice & Palliative Care (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
EP17796629.8A 2016-05-09 2017-05-08 Procédés de détermination d'un risque pour la santé génomique Withdrawn EP3455760A4 (fr)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201662333653P 2016-05-09 2016-05-09
US201662410783P 2016-10-20 2016-10-20
PCT/US2017/031559 WO2017196728A2 (fr) 2016-05-09 2017-05-08 Procédés de détermination d'un risque pour la santé génomique

Publications (2)

Publication Number Publication Date
EP3455760A2 EP3455760A2 (fr) 2019-03-20
EP3455760A4 true EP3455760A4 (fr) 2020-03-18

Family

ID=60267342

Family Applications (1)

Application Number Title Priority Date Filing Date
EP17796629.8A Withdrawn EP3455760A4 (fr) 2016-05-09 2017-05-08 Procédés de détermination d'un risque pour la santé génomique

Country Status (5)

Country Link
US (1) US20170329893A1 (fr)
EP (1) EP3455760A4 (fr)
AU (1) AU2017263319A1 (fr)
CA (1) CA3023283A1 (fr)
WO (1) WO2017196728A2 (fr)

Families Citing this family (11)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20200027557A1 (en) * 2018-02-28 2020-01-23 Human Longevity, Inc. Multimodal modeling systems and methods for predicting and managing dementia risk for individuals
CN112005306A (zh) * 2018-03-13 2020-11-27 格里尔公司 选择、管理和分析高维数据的方法和系统
WO2019209884A1 (fr) 2018-04-23 2019-10-31 Grail, Inc. Méthodes et systèmes de dépistage d'affections
AU2019277698A1 (en) 2018-06-01 2020-11-19 Grail, Llc Convolutional neural network systems and methods for data classification
US11581062B2 (en) 2018-12-10 2023-02-14 Grail, Llc Systems and methods for classifying patients with respect to multiple cancer classes
AU2019401636A1 (en) * 2018-12-18 2021-06-17 Grail, Llc Systems and methods for estimating cell source fractions using methylation information
US12497662B2 (en) 2019-04-16 2025-12-16 Grail, Inc. Systems and methods for tumor fraction estimation from small variants
KR20220064951A (ko) * 2019-06-21 2022-05-19 쿠퍼서지컬, 인코퍼레이션. 인간 배아에서의 복제 수 변이의 확인을 위한 단일 뉴클레오티드 변이의 밀도를 사용하는 시스템 및 방법(systems and methods for using density of single nucleotide variations for the verification of copy number variations in human embryos)
WO2022054086A1 (fr) * 2020-09-08 2022-03-17 Indx Technology (India) Private Limited Système et procédé d'identification d'anomalies génomiques associées au cancer et leurs implications
US20220277808A1 (en) * 2021-02-19 2022-09-01 Twist Bioscience Corporation Libraries for identification of genomic variants
CN112951329A (zh) * 2021-03-15 2021-06-11 天津金域医学检验实验室有限公司 一种高通量测序变异风险分组筛选方法

Citations (1)

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US20020142295A1 (en) * 1994-07-15 2002-10-03 Margaret Bywater Sequence-based mutation analysis of neoplastic tissue for diagnosis or prognosis of the neoplasia

Family Cites Families (4)

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Publication number Priority date Publication date Assignee Title
US20130332081A1 (en) * 2010-09-09 2013-12-12 Omicia Inc Variant annotation, analysis and selection tool
US20150066378A1 (en) * 2013-08-27 2015-03-05 Tute Genomics Identifying Possible Disease-Causing Genetic Variants by Machine Learning Classification
ES2875892T3 (es) * 2013-09-20 2021-11-11 Spraying Systems Co Boquilla de pulverización para craqueo catalítico fluidizado
WO2015105771A1 (fr) * 2014-01-07 2015-07-16 The Regents Of The University Of Michigan Systèmes et procédés for analyse de variantes génomiques

Patent Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20020142295A1 (en) * 1994-07-15 2002-10-03 Margaret Bywater Sequence-based mutation analysis of neoplastic tissue for diagnosis or prognosis of the neoplasia

Non-Patent Citations (10)

* Cited by examiner, † Cited by third party
Title
B. J. WILLCOX ET AL: "FOXO3A genotype is strongly associated with human longevity", PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES, vol. 105, no. 37, 16 September 2008 (2008-09-16), pages 13987 - 13992, XP055012050, ISSN: 0027-8424, DOI: 10.1073/pnas.0801030105 *
BO-YING BAO ET AL: "Genetic variants in ultraconserved regions associate with prostate cancer recurrence and survival", SCIENTIFIC REPORTS, vol. 6, no. 1, 23 February 2016 (2016-02-23), XP055638543, DOI: 10.1038/srep22124 *
DI IULIO JULIA ET AL: "The human noncoding genome defined by genetic diversity", NATURE GENETICS, NATURE PUBLISHING GROUP, NEW YORK, US, vol. 50, no. 3, 26 February 2018 (2018-02-26), pages 333 - 337, XP036462462, ISSN: 1061-4036, [retrieved on 20180226], DOI: 10.1038/S41588-018-0062-7 *
IULIANA IONITA-LAZA ET AL: "A spectral approach integrating functional genomic annotations for coding and noncoding variants", NATURE GENETICS., vol. 48, no. 2, 4 January 2016 (2016-01-04), NEW YORK, US, pages 214 - 220, XP055637830, ISSN: 1061-4036, DOI: 10.1038/ng.3477 *
JIA LI ET AL: "A Dual Model for Prioritizing Cancer Mutations in the Non-coding Genome Based on Germline and Somatic Events", PLOS COMPUTATIONAL BIOLOGY, vol. 11, no. 11, 20 November 2015 (2015-11-20), pages e1004583, XP055639341, DOI: 10.1371/journal.pcbi.1004583 *
JULIA DI IULIO ET AL, BIORXIV, 21 October 2016 (2016-10-21), XP055637551, Retrieved from the Internet <URL:https://www.biorxiv.org/content/biorxiv/early/2016/10/21/082362.full.pdf> [retrieved on 20191030], DOI: 10.1101/082362 *
JULIA DI IULIO: "Interpretation of the noncoding genome in medicine", PERSONALIZED MEDICINE, vol. 15, no. 6, 22 October 2018 (2018-10-22), GB, pages 453 - 455, XP055637477, ISSN: 1741-0541, DOI: 10.2217/pme-2018-0065 *
KHURANA EKTA ET AL: "Role of non-coding sequence variants in cancer", NATURE REVIEWS: GENETICS, NATURE PUBLISHING GROUP, UNITED KINGDOM, vol. 17, no. 2, 19 January 2016 (2016-01-19), pages 93 - 108, XP002773468, ISSN: 1471-0064, DOI: 10.1038/NRG.2015.17 *
STURM RICHARD A ET AL: "A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color", AMERICAN JOURNAL OF HUMAN GENETICS, AMERICAN SOCIETY OF HUMAN GENETICS, CHICAGO, IL, US, vol. 82, no. 2, February 2008 (2008-02-01), pages 424 - 431, XP009100453, ISSN: 0002-9297, DOI: 10.1016/J.AJHG.2007.11.005 *
VARUN AGGARWALA ET AL: "An expanded sequence context model broadly explains variability in polymorphism levels across the human genome", NATURE GENETICS., vol. 48, no. 4, 15 February 2016 (2016-02-15), NEW YORK, US, pages 349 - 355, XP055427377, ISSN: 1061-4036, DOI: 10.1038/ng.3511 *

Also Published As

Publication number Publication date
WO2017196728A3 (fr) 2018-07-26
AU2017263319A1 (en) 2018-12-13
EP3455760A2 (fr) 2019-03-20
WO2017196728A2 (fr) 2017-11-16
US20170329893A1 (en) 2017-11-16
CA3023283A1 (fr) 2017-11-16

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